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NLGN3 Gene

protein-coding   GIFtS: 66
GCID: GC0XP070364

Neuroligin 3

  See NLGN3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Neuroligin 31 2     KIAA14803
Gliotactin Homolog2 3     NL33
HNL32     ASPGX15
neuroligin-32     AUTSX15

External Ids:    HGNC: 142891   Entrez Gene: 544132   Ensembl: ENSG000001963387   OMIM: 3003365   UniProtKB: Q9NZ943   

Export aliases for NLGN3 gene to outside databases

Previous GC identifers: GC0XP066538 GC0XP067842 GC0XP068597 GC0XP069231 GC0XP070147 GC0XP070281 GC0XP064183


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NLGN3 Gene:
This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice
site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous
system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript
variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for NLGN3 Gene:
NLGN3 (neuroligin 3) is a protein-coding gene. Diseases associated with NLGN3 include autism susceptibility, x-linked 1, and asperger syndrome susceptibility, x-linked 1. GO annotations related to this gene include neurexin family protein binding and receptor activity. An important paralog of this gene is NLGN1.

UniProtKB/Swiss-Prot: NLGN3_HUMAN, Q9NZ94
Function: Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family
members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by
clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this.
May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By
similarity)

Gene Wiki entry for NLGN3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLGN3 gene promoter:
         E2F-3a   E2F-4   E2F-5   p300   E2F-2   E2F-1   E2F   HOXA5   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLGN3 promoter sequence
   Search Chromatin IP Primers for NLGN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLGN3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

NLGN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLGN3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP070364:  view genomic region     (about GC identifiers)

Start:
70,364,681 bp from pter      End:
70,391,051 bp from pter
Size:
26,371 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NLGN3_HUMAN, Q9NZ94 (See protein sequence)
Recommended Name: Neuroligin-3 precursor  
Size: 848 amino acids; 93895 Da
Subunit: Interacts with NRXN1, NRXN2 and NRXN3. Interacts (via its C-terminus) with DLG4/PSD-95 (via PDZ domain 3)
(By similarity). Homodimer, and heterodimer with NLGN1 and NLGN2 (By similarity)
Sequence caution: Sequence=AAF71231.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA96004.1; Type=Erroneous initiation; Sequence=BAC11226.1; Type=Erroneous initiation;
Secondary accessions: B2RBK1 D2X2H6 D3DVV0 D3DVV1 Q86V51 Q8NCD0 Q9NZ95 Q9NZ96 Q9NZ97 Q9P248
Alternative splicing: 3 isoforms:  Q9NZ94-1   Q9NZ94-2   Q9NZ94-3   (No experimental evidence available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for NLGN3: NX_Q9NZ94

Explore proteomics data for NLGN3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn98, Asn545
  • Modification sites at PhosphoSitePlus

  • See NLGN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001160132.1  NP_061850.2  NP_851820.1  

    ENSEMBL proteins: 
     ENSP00000379196   ENSP00000363163   ENSP00000351591   ENSP00000445298  

    NLGN3 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for NLGN3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000460 Neuroligin
     IPR019819 Carboxylesterase_B_CS
     IPR002018 CarbesteraseB

    Graphical View of Domain Structure for InterPro Entry Q9NZ94

    ProtoNet protein and cluster: Q9NZ94

    1 Blocks protein domain: IPB000460 Neuroligin signature

    UniProtKB/Swiss-Prot: NLGN3_HUMAN, Q9NZ94
    Similarity: Belongs to the type-B carboxylesterase/lipase family


    Find genes that share domains with NLGN3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NLGN3_HUMAN, Q9NZ94
    Function: Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family
    members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by
    clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this.
    May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By
    similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ISS--
    GO:0005515protein binding IPI17292328
    GO:0016787hydrolase activity ----
    GO:0042043neurexin family protein binding ISS15152050
    GO:0050839cell adhesion molecule binding ISS15152050
         
    Find genes that share ontologies with NLGN3           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Nlgn3):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  no phenotypic analysis 
     normal  reproductive system  respiratory system  taste/olfaction 

    Find genes that share phenotypes with NLGN3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NLGN3: Nlgn3tm2.1Sud Nlgn3tm1Rhn Nlgn3tm1Bros

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLGN3
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    hsa-mir-122-5p (MIRT023264)

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    Selected qRT-PCR Assays for microRNAs that regulate NLGN3 (see all 42):
    hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-1321 hsa-miR-29a hsa-let-7a-2* hsa-miR-3074-3p hsa-miR-3653 hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmidNLGN3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NLGN3

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    GenScript: all cDNA clones in your preferred vector (see all 3): NLGN3 (NM_018977)
    Sino Biological Human cDNA Clone for NLGN3
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLGN3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NLGN3_HUMAN, Q9NZ94: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, synapse
    (By similarity). Note=Detected at both glutamatergic and GABAergic synapses (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005887integral component of plasma membrane ISS--
    GO:0009986cell surface IDA15150161
    GO:0016020membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with NLGN3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NLGN3 About    
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    GABA signaling in brain0.32
    2Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)


    Find genes that share SuperPaths with NLGN3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for NLGN3):
        Cell adhesion molecules (CAMs)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NLGN3
    Interactions:

        Search GeneGlobe Interaction Network for NLGN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for NLGN3 (Q9NZ943 ENSP000003631634) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NRXN1P584003, ENSP000003851424I2D: score=2 I2D: score=1 STRING: ENSP00000385142
    NRXN2P584013, ENSP000002654594I2D: score=1 I2D: score=1 STRING: ENSP00000265459
    NRXN3Q9Y4C03, ENSP000003383494I2D: score=3 STRING: ENSP00000338349
    DLG2Q157003, ENSP000003652724I2D: score=2 STRING: ENSP00000365272
    DLG3Q927963, ENSP000003634804I2D: score=2 STRING: ENSP00000363480
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002087regulation of respiratory gaseous exchange by neurological system process ISS--
    GO:0006898receptor-mediated endocytosis ISS--
    GO:0007155cell adhesion ----
    GO:0007158neuron cell-cell adhesion ISS--
    GO:0007416synapse assembly ISS--

    Find genes that share ontologies with NLGN3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NLGN3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NLGN3 gene (3 alternative transcripts): 
    NM_001166660.1  NM_018977.3  NM_181303.1  

    Unigene Cluster for NLGN3:

    Neuroligin 3
    Hs.438877  [show with all ESTs]
    Unigene Representative Sequence: NM_181303
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395855(uc011mpr.1) ENST00000374051(uc004dzd.2 uc004dzb.3 uc004dzc.3)
    ENST00000358741 ENST00000476589(uc004dze.3) ENST00000536169(uc011mps.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat NLGN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NLGN3 (see all 42):
    hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-1321 hsa-miR-29a hsa-let-7a-2* hsa-miR-3074-3p hsa-miR-3653 hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmidNLGN3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB040913.1 AF217411.1 AF217412.1 AK074814.1 AK296217.1 AK299567.1 AK299669.1 AK314699.1 
    BC028738.1 BC051715.1 BX641059.1 GQ489207.1 

    5 DOTS entries:

    DT.406638  DT.91912598  DT.91727662  DT.91757103  DT.100020204 

    Selected AceView cDNA sequences (see all 64):

    AB040913 AF217411 AX773948 AX773949 AL120471 CB106668 AF217412 BF594214 
    AW296639 AI142535 NM_018977 CB153744 BC028738 AL120470 BG820379 AI159884 
    BI549518 BC051715 AI831875 AJ252067 AK074814 BI032719 AA057440 AI419522 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NLGN3    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:                    -     -           -                             -     -                     
    SP2:                                      -                             -     -                     
    SP3:                                                                    -     -                     
    SP4:                                      -     -                       -     -                     
    SP5:                                                                                                


    ECgene alternative splicing isoforms for NLGN3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NLGN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTTGTCC
    NLGN3 Expression
    About this image


    NLGN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Cerebral Cortex
             Oligodendrocyte progenitor cells
             Septum   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
     
     Spinal Cord (Nervous System)
             Oligodendrocyte progenitor cells
     
     Oligodendrocytes (Nervous System)
             Oligodendrocyte progenitor cells
    NLGN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLGN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438877

    UniProtKB/Swiss-Prot: NLGN3_HUMAN, Q9NZ94
    Tissue specificity: Expressed in the blood vessel walls (at protein level). Detected in throughout the brain and
    in spinal cord. Detected in brain, and at lower levels in pancreas islet beta cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLGN3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NLGN3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlgn31 , 5 neuroligin 31, 5 93.29(n)1
    99.03(a)1
      X (43.95 cM)5
    2455371  NM_172932.41  NP_766520.21 
     1012991685 
    chicken
    (Gallus gallus)
    Aves NLGN31 neuroligin 3 82.19(n)
    90.93(a)
      770104  NM_001173521.1  NP_001166992.1 
    lizard
    (Anolis carolinensis)
    Reptilia NLGN36
    neuroligin 3
    88(a)
    1 ↔ 1
    GL343599.1(236274-276423)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.87722 Xenopus laevis transcribed sequence with moderate similarity more 77.07(n)    AW159452.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nlgn3a1 neuroligin 3a 74.59(n)
    84.53(a)
      562702  NM_001166332.1  NP_001159804.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50303
    CG341391
    NOT carboxylesterase3
    CG341391
    41(a)
    (best of 16)3
    50.92(n)1
    44.31(a)1
      92D63
    424021  NM_001043265.21  NP_001036730.21 


    ENSEMBL Gene Tree for NLGN3 (if available)
    TreeFam Gene Tree for NLGN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLGN3 gene
    NLGN12  CES22  ACHE2  CES4A2  NLGN4X2  NLGN4Y2  CES32  NLGN22  
    CES12  CEL2  CES5A2  BCHE2  
    16 SIMAP similar genes for NLGN3 using alignment to 3 protein entries:     NLGN3_HUMAN (see all proteins):
    DKFZp686F02202    NLGN4X    NLGN2    nlgn1    NLGN4Y    NLGN1
    CES1P1    TG    CES3    CES2    BCHE    CES8
    ACHE    CES hBr2    CES1    CES4A

    Find genes that share paralogs with NLGN3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NLGN3 (see all 441)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0156684
    Autism, X-linked 1 (AUTSX1)4--see VAR_0156682 R C mis40--------
    rs1219178931,2
    Cother170395294(+) CCCGCC/TGTAAA 6 R C mis10--------
    rs1120798361,2
    C--70364988(+) TCCCT-/TCTACC 3 -- int11Minor allele frequency- T:0.00CSA 2
    rs2012139761,2
    --70370839(+) TCCTG-/GGTTCAAG 3 -- us2k10--------
    rs1996692891,2
    --70370840(+) CCTGG-/GTTCAAGT 3 -- us2k10--------
    rs1913161891,2
    --70370849(+) AAGTGA/CTTATC 3 -- us2k10--------
    rs582139671,2
    --70370888(+) ATTACA/CGGCAT 3 -- us2k10--------
    rs600907561,2
    C--70371039(+) ACCACG/ACCCGT 3 -- us2k12Minor allele frequency- A:0.25WA 4
    rs1379491671,2
    C--70371064(+) AAGAAA/GGGGCA 3 -- us2k10--------
    rs1858019851,2
    --70371131(+) ATACCA/GCTGGG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for NLGN3 (70364681 - 70391051 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NLGN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33082CNV Loss17666407
    esv27208CNV Gain19812545
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): NLGN3
    Locus Specific Mutation Databases (LSDB): NLGN3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NLGN3
    DNA2.0 Custom Variant and Variant Library Synthesis for NLGN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300336   
    OMIM disorders: 300425  300494  
    UniProtKB/Swiss-Prot: NLGN3_HUMAN, Q9NZ94
  • Autism, X-linked 1 (AUTSX1) [MIM:300425]: A complex multifactorial, pervasive developmental disorder
    characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped
    patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most
    individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry
  • Asperger syndrome, X-linked, 1 (ASPGX1) [MIM:300494]: A syndrome with features similar to autism.
    Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use
    of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to
    develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit
    restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal
    preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is
    primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of
    language and communicative phrases. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • 5 diseases for NLGN3:    
    About MalaCards
    autism susceptibility, x-linked 1    asperger syndrome susceptibility, x-linked 1    asperger syndrome    atypical autism
    autism spectrum disorder

    3 diseases from the University of Copenhagen DISEASES database for NLGN3:
    Autistic disorder     Asperger syndrome     Atypical autism

    Find genes that share disorders with NLGN3           About GenesLikeMe

    2 Novoseek inferred disease relationships for NLGN3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autistic 73.2 13 16648374 (3), 18189281 (2), 15152050 (1), 15389766 (1) (see all 7)
    mental retardation 30.9 3 18628683 (1), 16118346 (1)

    GeneTests: NLGN3
    GeneReviews: NLGN3
    Genetic Association Database (GAD): NLGN3
    Human Genome Epidemiology (HuGE) Navigator: NLGN3 (6 documents)

    Export disorders for NLGN3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NLGN3 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with NLGN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The structure and expression of the human neuroligin-3 gene. (PubMed id 10767552)1, 2, 3 Philibert R.A.... Ginns E.I. (Gene 2000)
    2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    3. A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. (PubMed id 19645625)1, 4, 9 Pampanos A....Kitsiou-Tzeli S. (Genet Test Mol Biomarkers 2009)
    4. Analysis of the neuroligin 4Y gene in patients with autism. (PubMed id 18628683)1, 4, 9 Yan J....Sommer S.S. (Psychiatr. Genet. 2008)
    5. NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population. (PubMed id 15389766)1, 4, 9 Gauthier J....Rouleau G.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    6. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. (PubMed id 15274046)1, 4, 9 Vincent J.B....Scherer S.W. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)
    7. Characterization of the neuroligin gene family expression and evolution in zebrafish. (PubMed id 20034102)1, 2 Rissone A.... Cotelli F. (Dev. Dyn. 2009)
    8. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    9. Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. (PubMed id 15620359)1, 2 Graf E.R.... Craig A.M. (Cell 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54413 HGNC: 14289 AceView: NLGN3 Ensembl:ENSG00000196338 euGenes: HUgn54413
    ECgene: NLGN3 Kegg: 54413 H-InvDB: NLGN3

    (According to HUGE)
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    HUGE: KIAA1480

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NLGN3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NLGN3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NLGN3 gene:
    Search GeneIP for patents involving NLGN3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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